ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.393+5G>A

dbSNP: rs2139928226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001932419 SCV002130420 uncertain significance Combined oxidative phosphorylation defect type 27 2022-09-27 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the CARS2 gene. It does not directly change the encoded amino acid sequence of the CARS2 protein. It affects a nucleotide within the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1367163). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. This variant is not present in population databases (gnomAD no frequency).
GeneDx RCV003227043 SCV003923667 uncertain significance not provided 2022-11-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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